Linked Data
dbSNP Id:
rs1313286200
gnomAD v2:
1-152277028-C-T
gnomAD v4:
1-152304552-C-T
COSMIC:
COSM6058185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304552C>T , CM000663.2:g.152304552C>T | GRCh38 |
| NC_000001.10:g.152277028C>T , CM000663.1:g.152277028C>T | GRCh37 |
| NC_000001.9:g.150543652C>T | NCBI36 |
| NG_016190.1:g.25652G>A , LRG_1028:g.25652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10334G>A MANE Select | ENSP00000357789.1:p.Arg3445Lys | |
| ENST00000368799.1:c.10334G>A | ENSP00000357789.1:p.Arg3445Lys | |
| NM_002016.1:c.10334G>A , LRG_1028t1:c.10334G>A | NP_002007.1:p.Arg3445Lys | |
| XM_011509329.1:c.9109-719G>A | XP_011507631.1:n.9109-719G>A | |
| NM_002016.2:c.10334G>A MANE Select | NP_002007.1:p.Arg3445Lys |